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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Recessive Inheritance of a Rare Variant in the Nuclear Mitochondrial Gene for AARS2 in Late-Onset Dilated Cardiomyopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer
This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome.
OriginalsprogEngelsk
TidsskriftJournal of Medical Genetics
Vol/bind48
Udgave nummer11
Sider (fra-til)737-40
Antal sider4
ISSN1468-6244
DOI
StatusUdgivet - 2011

ID: 33278203